A12955G-F1

**Figure 1\. Pedigree diagram for family A12955G\-F1\.**

![](/media/202607/A12955G-F1-pedigree_20260701012708967260.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12955 | m.12955A\>G | A12955G\-F1 | China | Exercise intolerance and developmental delay | 2 | 0 | 2015 | [26014388](https://pubmed.ncbi.nlm.nih.gov/26014388/) | Chinese family; Clinical and molecular sections.; China; patient described as from a non\-consanguineous Chinese family and Peking University First Hospital. |

The **m.12955A\>G** variant in MT\-ND5 was reported in family A12955G\-F1 from China with exercise intolerance and developmental delay. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was exercise intolerance, developmental and psychomotor delay, muscle weakness, fatigue, dizziness.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12955 | m.12955A\>G | A12955G\-F1 | A12955G\-F1\-III7 | Fam | F | Y | Y | A | 9 y at study; onset 6 m | 50\.1% | / | 63\.2% | / | Exercise intolerance; developmental and psychomotor delay; muscle weakness; fatigue; dizziness | Clinical description and molecular results.; Source: Proband; Elevated blood lactate. |
| 2 | 12955 | m.12955A\>G | A12955G\-F1 | A12955G\-F1\-II6 | Fam | F | N | N | A | ND | 32% | / | / | / | Healthy | Family testing and Figure 1\.; Source: Mother |
| 3 | 12955 | m.12955A\>G | A12955G\-F1 | A12955G\-F1\-III8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |

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